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Research involves

Understanding which common variations of genes, under which conditions, lead to different human diseases.

Research relevance

New ways to test for a variety of human diseases; new treatments that more accurately target problem cells and genes.

Genetics: Why Having Something In Common Is Not Always Good

There are hundreds of different ways to group humans. Age, gender, ethnicity, geography, and income are only a few of the more obvious ones. But the most important groupings may be the one we can't see, the one that cuts across all other groups and categorizations. Which genes we have in common with other people, and which we do not, may determine a lot more about our health and life than many other factors. In fact, we may have a lot more in common with someone on the other side of the world than we think.

While every person is genetically unique, we share much of our genetic code with other people-in fact, there are common groupings of genetic codes called polymorphisms. People with certain groupings are more susceptible to diseases such as diabetes, osteoporosis or heart disease. A small subset of common polymorphisms may even alter human cell function and thus genetically predispose people to disease and explain other differences in health.

But while we are getting close to mapping out every genetic grouping in our species, linking these common polymorphisms to specific altered cellular functions or particular diseases remains andecdotal. This is where Dr. Tomi Pastinen, the Canada Research Chair in Human Genomics comes in: he has spent years researching how different gene groups can determine which genes get turned on or off-an phenomenon called gene expression.

In his research, Pastinen grows different human cell lines in a variety of conditions that are associated with specific human diseases. He then compares differences in cell and gene function, a crucial first step in finding out which gene groups lead to which diseases, and under what conditions.

Linking common polymorphisms with large-scale functional data represents a new paradigm for genetic research and provides a treasure trove for discovery of disease-associated variation in our genomes. Pastinen's work may pave the way for understanding the underlying genetic causes of, or contributions to, a range of human diseases, ushering in a new range of lifesaving diagnostic methods and treatments.